rs35829419, NLRP3

N. diseases: 23
Disease: Cryopyrin-Associated Periodic Syndromes ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cryopyrin-Associated Periodic Syndromes
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
0.020 GeneticVariation BEFREE The pattern of cytokine secretion after lipopolysaccharide stimulation from isolated monocytes was analyzed in 3 patients carrying the p.Q703K variant and 1 patient with a chronic infantile neurologic, cutaneous, articular syndrome phenotype carrying both the p.M406I and p.Q703K, and compared with 7 patients with CAPS with sure pathogenic variants and 6 healthy controls. 27036377 2016
Cryopyrin-Associated Periodic Syndromes
CUI: C2316212
Disease: Cryopyrin-Associated Periodic Syndromes
0.020 GeneticVariation BEFREE Seven Caucasian patients (mean age 37.3±8.5 years, 2 males and 5 females) were identified as carriers of the Q703K mutation among 71 patients with CAPS-like symptoms. 22935299 2013